ClinVar Miner

List of variants in gene RNF125 reported as uncertain significance for Tenorio syndrome

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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_017831.4(RNF125):c.368T>C (p.Ile123Thr) rs146291499 0.00017
NM_017831.4(RNF125):c.521G>A (p.Arg174His) rs141822083 0.00004
NM_017831.4(RNF125):c.175T>C (p.Ser59Pro) rs1161192022 0.00001
NM_017831.4(RNF125):c.472A>G (p.Ile158Val) rs2039263250 0.00001
NM_017831.4(RNF125):c.488C>T (p.Ser163Leu) rs373764886 0.00001
NC_000018.9:g.(?_29598807)_(29625715_?)dup
NC_000018.9:g.(?_29598827)_(29617252_?)del
NC_000018.9:g.(?_29598827)_(29648347_?)dup
NC_000018.9:g.(?_29645845)_(29648347_?)dup
NC_000018.9:g.(?_29648241)_(29648367_?)dup
NM_017831.4(RNF125):c.164+5G>A
NM_017831.4(RNF125):c.227G>A (p.Arg76Gln)
NM_017831.4(RNF125):c.379G>A (p.Gly127Arg) rs1598815885
NM_017831.4(RNF125):c.382C>A (p.Pro128Thr)
NM_017831.4(RNF125):c.410C>T (p.Ala137Val)
NM_017831.4(RNF125):c.420_423del (p.Cys141fs)
NM_017831.4(RNF125):c.454A>G (p.Ser152Gly) rs2039263017
NM_017831.4(RNF125):c.521G>T (p.Arg174Leu)
NM_017831.4(RNF125):c.524del (p.Arg174_Leu175insTer)
NM_017831.4(RNF125):c.532G>A (p.Asp178Asn)
NM_017831.4(RNF125):c.612+1G>A
NM_017831.4(RNF125):c.613-14_613-12del
NM_017831.4(RNF125):c.670G>C (p.Glu224Gln)
NM_017831.4(RNF125):c.679A>T (p.Asn227Tyr) rs776728236
NM_017831.4(RNF125):c.683A>G (p.His228Arg)

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